A case of partial 3p trisomy (46,XY,-18,+der(18),t(3;18)(p24;q22)).
スポンサーリンク
概要
- 論文の詳細を見る
Cytogenetic analysis of a one-month-old Japanese boy with cretinism-like features was carried out. His chromosome constitution was determined as 46, XY, -18, +der (18), t(3;18) (p24; q22) mat. A family study revealed that balanced translocation carriers were his mother and maternal grandmother. The propositus had characteristic features of 3p trisomy such as square facies, temporal indentation, strabimus, depressed nasal bridge, prominent middle upper lip, carp mouth, micro- and retrognathia, short neck and hypoplastic penis.
- 日本学士院の論文
著者
-
Koike Michio
Department Of Pediatrics Wakayama Medical College
-
Kodama Akihiko
Department Of Pediatrics Faculty Of Medicine Kagoshima University
-
Uemura Shigeru
Department of Pediatrics, Wakayama Medical College
-
Uemura Shigeru
Department of Biosystem Management, Division of Environmental Conservation, Graduate School of Environmental Science, Hokkaido University
-
TSUKINO Ryuichi
Department of Pediatrics, Wakayama Medical College
-
OMORI Hiromitsu
Department of Pediatrics, Wakayama Medical College
-
KODAMA Akihiko
Department of Pediatrics, Wakayama Medical College
関連論文
- Guidelines for catheter intervention in coronary artery lesion in Kawasaki disease
- 3β-Hydroxy-Δ^5-C_-steroid dehydrogenase/isomerase deficiency in a 23-year-old woman
- 血清抗体を用いた小児におけるHelicobacter pylori診断法の検討
- Revision of diagnostic guidelines for Kawasaki disease : the 5th revised edition
- Serum levels of neutrophil activation cytokines in Kawasaki disease
- Diaphragmatic hernia in an infant of a diabetic mother : An unusual association in diabetic embryopathy
- Immunogenicity and reactogenicity of the component acellular pertussis vaccine produced by a combination of column purified pertussis toxin and filamentous haemagglutinin
- -1080-EVALUATION OF FLOW PATTERNS OF THE CORONARY ARTERIES AND VEINS USING CINE-MRI : THE 54th ANNUAL SCIENTIFIC MEETING OF THE JAPANESE CIRCULATION SOCIETY
- -1336- CORONARY MAGNETIC RESONANCE ANGIOGRAPHY (MRA) WITH SEGMENTED K-SPACE TURBOFLASH (STFL) SEQUENCE(PROCEEDINGS OF THE 59th ANNUAL SCIENTIFIC MEETING OF THE JAPANESE CIRCULATION SOCIETY)
- Neoplasms in three patients following Kawasaki disease
- Induction of Cardiovascular Malformations by Leupeptin in the Rat
- Breast-feeding prevents Helicobacter pylori infection in early childhood
- A case of partial 3p trisomy (46,XY,-18,+der(18),t(3;18)(p24;q22)).
- Recurrence Risk for the Second 21-Trisomic Children